Aims. Genetic factors occupy the special place in etiology of male infertility. CFTR gene mutations are common cause of obstructive azoospermia.
The purpose of study to set up the frequency of CFTR mutations and IVS8 5T allele among idiopathic infertile males fromWestern Ukraine and to search for undiagnosed cases of CF.
Methods and materials. The CFTR mutations testing were performed among 250 azoospermic males without karyotype abnormalities and Y-chromosome AZF microdeletions. DNA from peripheral blood leukocytes was isolated and purificated using a modified salting out method. Extracted DNA was amplified by polymerase chain reaction (PCR). The PCR products were subsequently digested with the restriction enzyme for identification of CFTR gene mutations. The PCR products were subjected to electrophoresis in a 2% agarose or 10% polyacrylamide gels.
Result of research. The frequency of F508del mutation among infertile males (12.96%) higher than the frequency of F508del mutation in general population (1.67%) (р=0.000014; OR=8.79). The IVS8 5T allele frequency in studied group of infertile males was 20.37% as compared to 5% among fertile males (p=0.000983; OR=4.86). Fourteen patients were detected to have IVS8-5T with CF causing mutations: seven — F508del, two — G542X and D1152H, and once N1303K, I336K, CFTRdele2,3(21kb). The sweat test was performed for all the patients with identified CFTR mutation or clinical data of ejaculate increased viscosity and decreased pH and/or obstructive azoospermia/aspermia. The diagnosis of CFTR-RD was established among 12.8% infertile males.
Conclusions. The results pointed high incidence of undiagnosed CFTR-RD among infertile men fromWestern Ukraine and the including the data to CF registry cardinal changes surviving figures.